R12
MCID: RNG007
MIFTS: 27

Ring Chromosome 12 (R12)

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 12

Summaries for Ring Chromosome 12

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1439 Definition Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability , microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia ). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 12, also known as chromosome 12 ring, is related to muscular dystrophy, limb-girdle, autosomal recessive 12 and vater/vacterl association. Affiliated tissues include heart, breast and eye, and related phenotypes are global developmental delay and abnormal facial shape

Related Diseases for Ring Chromosome 12

Graphical network of the top 20 diseases related to Ring Chromosome 12:



Diseases related to Ring Chromosome 12

Symptoms & Phenotypes for Ring Chromosome 12

Human phenotypes related to Ring Chromosome 12:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 obligate (100%) Obligate (100%) HP:0001263
2 abnormal facial shape 58 31 obligate (100%) Obligate (100%) HP:0001999
3 growth delay 58 31 obligate (100%) Obligate (100%) HP:0001510
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 abnormal dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0007477
6 clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0030084
7 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
8 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
9 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
10 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
11 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
12 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
13 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
14 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
15 hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001028
16 dystrophic toenail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001810
17 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
18 hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001007
19 glandular hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000807
20 breast hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003187
21 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
22 secundum atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001684
23 uterine leiomyoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000131
24 syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001159
25 lumbar hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002938
26 symphalangism of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009656
27 abnormal 5th finger morphology 31 occasional (7.5%) HP:0004207
28 abnormality of the 5th finger 58 Occasional (29-5%)

Drugs & Therapeutics for Ring Chromosome 12

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 12

Genetic Tests for Ring Chromosome 12

Genetic tests related to Ring Chromosome 12:

# Genetic test Affiliating Genes
1 Ring Chromosome 12 29

Anatomical Context for Ring Chromosome 12

MalaCards organs/tissues related to Ring Chromosome 12:

40
Heart, Breast, Eye, Uterus, Myeloid

Publications for Ring Chromosome 12

Articles related to Ring Chromosome 12:

(show all 28)
# Title Authors PMID Year
1
Monomolecular Dehydration of Ethanol into Ethylene over H-MOR Studied by Density Functional Theory. 61
32391457 2020
2
Large fatty acid-derived Aβ42 oligomers form ring-like assemblies. 61
30795679 2019
3
[Further Surgery for Mitral Stenosis 12-years after Mitral Valve Repair;Report of a Case]. 61
29755084 2018
4
Equatorial Assembly of the Cell-Division Actomyosin Ring in the Absence of Cytokinetic Spatial Cues. 61
29502950 2018
5
Facile Gold-Catalyzed Heterocyclization of Terminal Alkynes and Cyanamides Leading to Substituted 2-Amino-1,3-Oxazoles. 61
26135038 2015
6
Synthesis and structural characterization of Al-containing interlayer-expanded-MWW zeolite with high catalytic performance. 61
24798349 2014
7
Comparison of the axial stiffness of carbon composite and aluminium alloy circular external skeletal fixator rings. 61
23677120 2013
8
Alternative SAIL-Trp for robust aromatic signal assignment and determination of the χ(2) conformation by intra-residue NOEs. 61
21947837 2011
9
Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male. 61
20933620 2011
10
Imaging of congenital mesoblastic nephroma with pathological correlation. 61
19629463 2009
11
Ring chromosome 12 and severe oligospermia: a case report. 61
17880954 2008
12
Standardization of video-assisted cardiac surgery technique: initial experience. 61
18820780 2008
13
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12. 61
18005181 2008
14
Evaluation of chronic gastrointestinal symptoms following Persian Gulf War exposure. 61
16173212 2005
15
Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. 61
15930904 2005
16
Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature. 61
12599192 2003
17
Ex-vivo short-term culture and developmental assessment of Plasmodium vivax. 61
11816444 2001
18
N1-phenyl substituted 4-quinolones of tuberculostatic activity. 61
11817167 2001
19
17-Imidazolyl, pyrazolyl, and isoxazolyl androstene derivatives. Novel steroidal inhibitors of human cytochrome C17,20-lyase (P450(17 alpha). 61
9379450 1997
20
Acute myeloid leukemia with t(6;9) (p23;q34): association with myelodysplasia, basophilia, and initial CD34 negative immunophenotype. 61
9124211 1997
21
Estrogenic triarylethylene acetic acids: effect of structural variation on estrogen receptor affinity and estrogenic potency and efficacy in MCF-7 cells. 61
8941399 1996
22
Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review. 61
8725781 1996
23
Intrastromal corneal ring: 12-month sighted myopic eyes. 61
8963814 1996
24
Ring chromosome 12 resulting from nonrandom telomeric associations with the short arm of chromosome 15 in a cerebellar astrocytoma. 61
7504519 1993
25
Ring chromosome 12. 61
3354616 1988
26
Conformationally restricted retinoids. 61
6208361 1984
27
The syndrome of ring chromosome 12. 61
7395909 1980
28
Ring chromosome and latent centromeres. 61
7438790 1980

Variations for Ring Chromosome 12

Expression for Ring Chromosome 12

Search GEO for disease gene expression data for Ring Chromosome 12.

Pathways for Ring Chromosome 12

GO Terms for Ring Chromosome 12

Sources for Ring Chromosome 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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